RT Book, Section
A1 Dirkx, Tonja C.
A1 Woodell, Tyler B.
A2 Papadakis, Maxine A.
A2 McPhee, Stephen J.
A2 Rabow, Michael W.
A2 McQuaid, Kenneth R.
SR Print(0)
ID 1193127741
T1 Juvenile Nephronophthisis-Medullary Cystic Disease
T2 Current Medical Diagnosis & Treatment 2023
YR 2023
FD 2023
PB McGraw-Hill Education
PP New York, NY
SN 9781264687343
LK accessmedicine.mhmedical.com/content.aspx?aid=1193127741
RD 2024/09/14
AB This  disorder  is  a  common  cause  of  ESKD  in  younger  individuals,  and  is  associated  with  almost  universal  progression  to  ESKD.  The  childhood  type—juvenile  nephronophthisis—is  an  autosomal  recessive  disorder  caused  by  mutations  in  any  of  20  NPHP  genes;  the  type  appearing  in  adulthood—medullary  cystic  disease—is  autosomal  dominant.  Both  types  are  manifested  by  multiple  small  renal  cysts  at  the  corticomedullary  junction  and  medulla.  The  cortex  becomes  fibrotic,  and  as  the  disease  progresses,  interstitial  inflammation  and  glomerular  sclerosis  develop.